A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5793



Internal ID15196926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73767777..73813968hg38UCSC Ensembl
Outerchr2:73994904..74041095hg19UCSC Ensembl
Outerchr2:73848412..73894603hg18UCSC Ensembl
Outerchr2:73906559..73952750hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3846192
hg1946192
hg1846192
hg1746192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2780
Supporting Variants
SamplesNA19129
Known GenesC2orf78, DUSP11
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5793
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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